Human health and medicine

Glutethimide

Glutethimide (Doriden, 2-ethyl-2-phenylglutarimide) is a discontinued 1954 piperidinedione sedative-hypnotic once marketed as a safer barbiturate alternative; withdrawn for barbiturate-like addiction, toxic overdose via metabolite 4-HG, and codeine misuse; now US Schedule II.

Gluteus maximus

Gluteus maximus: the largest gluteal muscle, a quadrangular hip extensor innervated by the inferior gluteal nerve (L5-S2). About 60% larger in humans than apes; central to bipedal running and sitting control.

Glycated hemoglobin

Glycated hemoglobin (HbA1c, glycohemoglobin) is hemoglobin with glucose bound to the β-chain N-terminal valine, reflecting average blood glucose over 8–12 weeks; used to diagnose diabetes (≥6.5%) and set treatment goals (<7%), reported in NGSP % and IFCC mmol/mol units.

Glycemic Control

Glycemic control, management of blood glucose in diabetes toward individualized targets, assessed by A1C and CGM metrics such as time in range (>70%), time below range (<4%), and A1C below 7% for many nonpregnant adults.

Glycemic index

Glycemic index (GI): 1–100 ranking of carbohydrate foods by blood glucose response to 50 g available carbohydrate versus glucose, introduced by Jenkins 1981, standardized in ISO 26642:2010; low ≤55, high ≥70; GL = GI × carbohydrate/100.

Glycerol phenylbutyrate

Glycerol phenylbutyrate (Ravicti, HPN-100) is a triglyceride prodrug nitrogen-binding agent for chronic management of urea cycle disorders; FDA approved 2013, EU 2015, noninferior to sodium phenylbutyrate.

Glycine encephalopathy

Glycine encephalopathy, or nonketotic hyperglycinemia (NKH), is an autosomal recessive inborn error of glycine metabolism caused by glycine cleavage system defects (GLDC, AMT), causing neonatal lethargy, hypotonia, apnea, and seizures; treated with sodium benzoate and supportive care.

Glycogen storage disease due to aldolase A deficiency

Glycogen storage disease due to aldolase A deficiency (GSD type XII, GSD12, OMIM 611881) is an ultra-rare autosomal recessive ALDOA disorder causing hemolytic anemia, fever-triggered rhabdomyolysis, and learning disabilities, with no specific treatment.

Glycogen storage disease due to glucose-6-phosphatase deficiency

Glycogen storage disease due to glucose-6-phosphatase deficiency (GSD I, von Gierke disease): autosomal recessive disorder of G6PC or SLC37A4 causing fasting hypoglycemia, hepatomegaly, treated with cornstarch and glucose regimens.

Glycogen storage disease due to glycogen branching enzyme deficiency

Glycogen storage disease type IV, Andersen disease, amylopectinosis: autosomal recessive GBE1 (3p12) deficiency causing polyglucosan accumulation; hepatic, neuromuscular, cardiac continuum from fetal onset to adult polyglucosan body disease.

Glycogen storage disease due to hepatic glycogen synthase deficiency

Glycogen storage disease type 0a (GSD 0a, hepatic glycogen synthase deficiency, GYS2, OMIM 240600): rare autosomal recessive liver glycogen synthesis defect causing fasting ketotic hypoglycemia without hepatomegaly and postprandial hyperglycemia.

Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency

Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency, also called GSD IXb or PHKB-related GSD IX, is an autosomal recessive glycogenolysis defect causing hepatomegaly, hypoglycemia, and mild muscle involvement, managed with diet and uncooked cornstarch.

Glycogen storage disease due to liver glycogen phosphorylase deficiency

Glycogen storage disease type VI, also called Hers disease, is a rare autosomal recessive liver glycogenosis caused by PYGL deficiency of hepatic glycogen phosphorylase, causing hepatomegaly, growth delay, and ketotic hypoglycemia.

Glycogen storage disease due to liver phosphorylase kinase deficiency

Liver phosphorylase kinase deficiency (GSD IXa/IXb/IXc; formerly GSD VIa, VIII) is an inherited glycogen storage disease causing hepatomegaly, fasting hypoglycemia, and elevated transaminases; genes PHKA2, PHKB, PHKG2.

Glycogen storage disease due to muscle beta-enolase deficiency

Glycogen storage disease type XIII (GSDXIII, GSD13, muscle enolase deficiency) is an extremely rare autosomal-recessive ENO3 metabolic myopathy causing exercise intolerance, myalgia, and rhabdomyolysis from muscle beta-enolase deficiency.

Glycogen storage disease due to muscle glycogen phosphorylase deficiency

Glycogen storage disease type V, McArdle disease, myophosphorylase deficiency: autosomal recessive PYGM (11q13) disorder blocking muscle glycogen breakdown, causing exercise intolerance, second wind, rhabdomyolysis, and myoglobinuria; managed with carbohydrate-rich diet and supervised aerobic exercise.

Glycogen storage disease due to muscle phosphofructokinase deficiency

Tarui disease (垂井病), glycogen storage disease type VII, muscle phosphofructokinase deficiency: autosomal recessive PFKM defect blocking glycolysis, causing exercise intolerance, cramps, hemolysis, hyperuricemia; described 1965.

Glycogen storage disease due to muscle phosphorylase kinase deficiency

Glycogen storage disease due to muscle phosphorylase kinase deficiency (GSD IXα1, formerly GSD IXd), an ultra-rare X-linked PHKA1 disorder impairing muscle glycogen breakdown, causing mild exercise intolerance, myalgia, cramps, and weakness.

Glycogen storage disease due to phosphoglycerate mutase deficiency

Glycogen storage disease type X, also called GSD10 or muscle phosphoglycerate mutase deficiency, is a rare autosomal recessive myopathy causing exercise intolerance, cramps, and rhabdomyolysis, first described in 1981.

Glycogen storage disease type II

Glycogen storage disease type II, or Pompe disease, acid maltase deficiency, GAA deficiency: autosomal recessive lysosomal glycogen buildup from acid alpha-glucosidase deficiency, causing infantile cardiomyopathy or late-onset muscle weakness, treated with enzyme replacement therapy.

Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency

Glycogen storage disease type XV (GSD 15, GSDXV, OMIM 613507) is an ultra-rare autosomal recessive GYG1 (glycogenin-1) disorder causing severe polyglucosan cardiomyopathy, arrhythmias, and heart failure often requiring transplantation, with skeletal muscle usually spared.

Glycogen storage diseases

Glycogen storage disease (GSD), also called glycogenosis, is an inherited metabolic disorder in which defective enzymes prevent normal glycogen breakdown, affecting mainly the liver and muscles.

Glycopyrronium bromide

Glycopyrronium bromide (glycopyrrolate, Robinul, Seebri, Sialanar, Qbrexza) is a quaternary ammonium antimuscarinic drug approved since 1961, used for peptic ulcer, secretions, drooling, COPD, and hyperhidrosis.

Glymphatic system

Glymphatic system: brain-wide perivascular CSF-ISF exchange network, described by Iliff et al. 2012, that clears amyloid-β and tau; sleep-enhanced, AQP4-dependent, measured by DTI-ALPS, and contested by diffusion and IPAD models.

GM1 gangliosidosis

GM1 gangliosidosis (beta-galactosidase-1 deficiency, Landing disease) is a rare autosomal recessive lysosomal storage disorder caused by GLB1 variants, with infantile, late-infantile/juvenile, and adult types, and no approved disease-modifying therapy.

GM2 gangliosidosis, AB variant

GM2 gangliosidosis, AB variant (GM2 activator deficiency, OMIM 272750) is an ultra-rare autosomal recessive lysosomal storage disorder: GM2A mutations disable the GM2 activator protein, so GM2 ganglioside accumulates despite normal hexosaminidase A and B, causing infantile Tay-Sachs-like neurodegeneration.

GM3 synthase deficiency

GM3 synthase deficiency, also called Amish infantile epilepsy syndrome, salt & pepper syndrome, or ST3GAL5-CDG, is an autosomal recessive congenital disorder of glycosylation causing infantile refractory epilepsy, developmental stagnation, deafness, and skin pigment changes.

GMPPB-related limb-girdle muscular dystrophy R19

GMPPB-related limb-girdle muscular dystrophy R19, also LGMD R19 or LGMD2T (OMIM 615352), is an autosomal recessive dystroglycanopathy from GMPPB mutations, causing proximal weakness, hypotonia, intellectual disability, and epilepsy, prevalence under 1 in 1,000,000.

GNAO1-related developmental delay-seizures-movement disorder spectrum

GNAO1-related developmental delay-seizures-movement disorder spectrum is a rare inherited neurological condition caused by GNAO1 gene changes, causing developmental delay, seizures, and movement disorders such as dystonia.